PMC:2495064 / 9066-10558 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/2495064","sourcedb":"PMC","sourceid":"2495064","source_url":"https://www.ncbi.nlm.nih.gov/pmc/2495064","text":"Population Prevalence\nKnown duplicate samples from the same individual were 100% concordant. mtDNA mutations were detected in 15 different subjects (Table 2), giving a total mean frequency of 0.54% for the ten mutations (95% CI = 0.30–0.89%) in neonatal-cord-blood samples. The m.3243A→G mutation was the most common. No positive calls were seen for five mutations: m.7445A→G, m.8344A→G, m.8993T→G, m.13513G→A, and m.14459G→A. In each case, the mutation was confirmed by an independent technique from a fresh aliquot of the source DNA, which was kept in a different laboratory. For the majority of mutations, this was performed with last-cycle fluorescent PCR/RFLP, as described in the Material and Methods section. For m.1555A→G, the presence of the mutation was confirmed in each case by cloning and sequencing 23 independent clones.\nTwelve subjects harbored a heteroplasmic mtDNA mutation. The mean heteroplasmy level for the 15 positive cases was 43% when homoplasmic mutations were included and 29% when homoplasmic mutations were excluded. The percentage level of mutant mtDNA was evenly distributed above and below the mean (Figure 1). The three homoplasmic subjects, including two known siblings, harbored an LHON mutation. D-loop sequencing and mtDNA haplogroup analysis confirmed that other mutation-positive cases were not maternally related to each other or to known pedigrees from the same geographic region, which had a different mtDNA sequence at two or more sites19 (Table 3).","divisions":[{"label":"title","span":{"begin":0,"end":21}},{"label":"p","span":{"begin":22,"end":835}}],"tracks":[{"project":"2_test","denotations":[{"id":"18674747-12518276-2049173","span":{"begin":1479,"end":1481},"obj":"12518276"}],"attributes":[{"subj":"18674747-12518276-2049173","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#e393ec","default":true}]}]}}